"GeneDx"[submitter] AND "ALG8"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 1224993	NC_000011.10:g.78100680T>C	ALG8	Single nucleotide variant	not provided	GBenign
Select item 1235083	NC_000011.10:g.78100755dup	ALG8	Duplication	not provided	GBenign
Select item 1286202	NC_000011.10:g.78100817C>T	ALG8	Single nucleotide variant	not provided	GBenign
Select item 1255268	NC_000011.10:g.78100847T>C	ALG8	Single nucleotide variant	not provided	GBenign
Select item 96088	NM_024079.4(ALG8):c.*20A>G	ALG8	Single nucleotide variant	Congenital disorder of glycosylation +3 more	GBenign
Select item 1228671	NM_024079.5(ALG8):c.1350-82A>T	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189265	NM_024079.5(ALG8):c.1350-280del	ALG8	Deletion (intron variant)	not provided	GLikely benign
Select item 166677	NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr)	ALG8 (I439T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 538563	NM_024079.5(ALG8):c.1285A>G (p.Ile429Val)	ALG8 (I429V)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +2 more	GUncertain significance
Select item 1345002	NM_024079.5(ALG8):c.1277-44C>G	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268028	NM_024079.5(ALG8):c.1277-98G>A	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 306213	NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu)	ALG8 (S404L)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1219665	NM_024079.5(ALG8):c.1179-190G>A	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266905	NM_024079.5(ALG8):c.1179-241A>G	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264055	NM_024079.5(ALG8):c.1179-277C>T	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280058	NM_024079.5(ALG8):c.1178+234T>C	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265736	NM_024079.5(ALG8):c.1178+122_1178+125dup	ALG8	Duplication (intron variant)	not provided	GBenign
Select item 1304231	NM_024079.5(ALG8):c.1160T>C (p.Leu387Pro)	ALG8 (L387P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384081	NM_024079.5(ALG8):c.1134G>T (p.Trp378Cys)	ALG8 (W378C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1311986	NM_024079.5(ALG8):c.1117T>G (p.Ser373Ala)	ALG8 (S373A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 387426	NM_024079.5(ALG8):c.1117T>C (p.Ser373Pro)	ALG8 (S373P)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +2 more	GUncertain significance
Select item 280116	NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)	ALG8 (R364*)	Single nucleotide variant (nonsense)	ALG8 congenital disorder of glycosylation +4 more	GPathogenic/Likely pathogenic
Select item 306214	NM_024079.5(ALG8):c.1039-5T>C	ALG8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1238767	NM_024079.5(ALG8):c.1039-276AT[13]	ALG8	Microsatellite (intron variant)	not provided	GBenign
Select item 1229537	NM_024079.5(ALG8):c.1039-276AT[14]	ALG8	Microsatellite (intron variant)	not provided	GBenign
Select item 1189932	NM_024079.5(ALG8):c.1039-276AT[15]	ALG8	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1291628	NM_024079.5(ALG8):c.1039-276AT[10]	ALG8	Microsatellite (intron variant)	not provided	GBenign
Select item 1225659	NM_024079.5(ALG8):c.1039-276AT[9]	ALG8	Microsatellite (intron variant)	not provided	GBenign
Select item 1223344	NM_024079.5(ALG8):c.1039-276AT[11]	ALG8	Microsatellite (intron variant)	not provided	GBenign
Select item 1259091	NM_024079.5(ALG8):c.1039-284A>C	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281837	NM_024079.5(ALG8):c.1038+320A>G	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215778	NM_024079.5(ALG8):c.1038+260A>G	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2574716	NM_024079.5(ALG8):c.1038+223_1038+224del	ALG8	Deletion (intron variant)	not provided	GLikely benign
Select item 1218784	NM_024079.5(ALG8):c.1038+172A>G	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1032157	NM_024079.5(ALG8):c.980C>G (p.Thr327Arg)	ALG8 (T327R)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 261683	NM_024079.5(ALG8):c.899-43A>G	ALG8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 261684	NM_024079.5(ALG8):c.899-46A>G	ALG8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1200674	NM_024079.5(ALG8):c.899-121G>A	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220235	NM_024079.5(ALG8):c.899-168G>C	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188963	NM_024079.5(ALG8):c.898+139C>T	ALG8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1178883	NM_024079.5(ALG8):c.898+88T>C	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248091	NM_024079.5(ALG8):c.898+36T>C	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 388499	NM_024079.5(ALG8):c.877G>A (p.Asp293Asn)	ALG8 (D293N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 701919	NM_024079.5(ALG8):c.869A>G (p.Asn290Ser)	ALG8 (N290S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 306219	NM_024079.5(ALG8):c.862T>C (p.Leu288=)	ALG8	Single nucleotide variant (synonymous variant)	ALG8 congenital disorder of glycosylation +1 more	GBenign
Select item 198905	NM_024079.5(ALG8):c.856T>G (p.Trp286Gly)	ALG8 (W286G)	Single nucleotide variant (missense variant)	ALG8 congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 96093	NM_024079.5(ALG8):c.803G>A (p.Arg268Gln)	ALG8 (R268Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1281185	NM_024079.5(ALG8):c.778-228G>T	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236020	NM_024079.5(ALG8):c.777+187A>G	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218187	NM_024079.5(ALG8):c.777+164_777+170del	ALG8	Deletion (intron variant)	not provided	GLikely benign
Select item 1175528	NM_024079.5(ALG8):c.777+170G>T	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228162	NM_024079.5(ALG8):c.777+164_777+168del	ALG8	Deletion (intron variant)	not provided	GBenign
Select item 1272762	NM_024079.5(ALG8):c.777+164_777+167del	ALG8	Deletion (intron variant)	not provided	GBenign
Select item 1257678	NM_024079.5(ALG8):c.777+164G>T	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270090	NM_024079.5(ALG8):c.777+8dup	ALG8	Duplication (intron variant)	not provided	GBenign
Select item 1240989	NM_024079.5(ALG8):c.777+8_777+10dup	ALG8	Duplication (intron variant)	not provided	GBenign
Select item 1239262	NM_024079.5(ALG8):c.777+8_777+11dup	ALG8	Duplication (intron variant)	not provided	GBenign
Select item 1198500	NM_024079.5(ALG8):c.777+8_777+12dup	ALG8	Duplication (intron variant)	not provided	GLikely benign
Select item 1191761	NM_024079.5(ALG8):c.719C>T (p.Ser240Phe)	ALG8 (S240F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315313	NM_024079.5(ALG8):c.710G>A (p.Arg237His)	ALG8 (R237H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205659	NM_024079.5(ALG8):c.674-27G>T	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 261682	NM_024079.5(ALG8):c.674-29T>C	ALG8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1253798	NM_024079.5(ALG8):c.674-31C>T	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261681	NM_024079.5(ALG8):c.673+37T>C	ALG8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 96092	NM_024079.5(ALG8):c.665A>G (p.Asn222Ser)	ALG8 (N222S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1253300	NM_024079.5(ALG8):c.547-70T>C	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285750	NM_024079.5(ALG8):c.547-204T>C	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282779	NM_024079.5(ALG8):c.547-259G>A	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201574	NM_024079.5(ALG8):c.546+284G>C	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262247	NM_024079.5(ALG8):c.546+270A>G	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286729	NM_024079.5(ALG8):c.546+180C>T	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203889	NM_024079.5(ALG8):c.546+135G>A	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179708	NM_024079.5(ALG8):c.479-179_479-169del	ALG8	Deletion (intron variant)	not provided	GBenign
Select item 1197453	NM_024079.5(ALG8):c.479-179_479-170del	ALG8	Deletion (intron variant)	not provided	GLikely benign
Select item 1252826	NM_024079.5(ALG8):c.479-179_479-171del	ALG8	Deletion (intron variant)	not provided	GBenign
Select item 1198183	NM_024079.5(ALG8):c.479-179_479-178del	ALG8	Deletion (intron variant)	not provided	GLikely benign
Select item 1203605	NM_024079.5(ALG8):c.479-197dup	ALG8	Duplication (intron variant)	not provided	GLikely benign
Select item 1226967	NM_024079.5(ALG8):c.479-294A>G	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281741	NM_024079.5(ALG8):c.479-304G>A	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215969	NM_024079.5(ALG8):c.478+321C>T	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 261680	NM_024079.5(ALG8):c.478+35A>T	ALG8	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 489384	NM_024079.5(ALG8):c.478+1G>A	ALG8	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2446346	NM_024079.5(ALG8):c.460G>A (p.Gly154Arg)	ALG8 (G154R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310520	NM_024079.5(ALG8):c.446T>G (p.Leu149Arg)	ALG8 (L149R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506847	NM_024079.5(ALG8):c.430A>T (p.Ile144Phe)	ALG8 (I144F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1249379	NM_024079.5(ALG8):c.369-249A>C	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278982	NM_024079.5(ALG8):c.369-339dup	ALG8	Duplication (intron variant)	not provided	GBenign
Select item 1177978	NM_024079.5(ALG8):c.368+261G>C	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234821	NM_024079.5(ALG8):c.368+73C>T	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 306226	NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys)	ALG8 (Y84C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1218011	NM_024079.5(ALG8):c.175-18C>A	ALG8	Single nucleotide variant (intron variant)	Polycystic liver disease 3 with or without kidney cysts +2 more	GBenign/Likely benign
Select item 1269351	NM_024079.5(ALG8):c.175-239G>C	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175494	NM_024079.5(ALG8):c.174+268G>A	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291634	NM_024079.5(ALG8):c.174+259dup	ALG8	Duplication (intron variant)	not provided	GBenign
Select item 1228788	NM_024079.5(ALG8):c.174+238T>C	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273798	NM_024079.5(ALG8):c.174+155G>T	ALG8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212812	NM_024079.5(ALG8):c.174+136G>T	ALG8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188964	NM_024079.5(ALG8):c.174+30del	ALG8	Deletion (intron variant)	not provided +1 more	GBenign
Select item 96090	NM_024079.5(ALG8):c.121C>T (p.Arg41Ter)	ALG8 (R41*)	Single nucleotide variant (nonsense)	ALG8 congenital disorder of glycosylation +2 more	GPathogenic/Likely pathogenic

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